Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency.

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作者： Kruthika,Sundaram ^[1] ; Micol,Ferro ^[2] ; Inborn Errors of Immunity Functional Diagnostics Consortium ^[1] ; Grant,Hayman ^[2] ; Mohammad A A,Ibrahim ^[3]

作者单位： Department of Immunological Medicine, King's College London, King's Health Partners, King's College Hospital NHS Foundation Trust, School of Immunology and Microbial Sciences, Denmark Hill, London, SE5 9RS, UK. ^[1] Viapath, King's College Hospital, Denmark Hill, London, SE5 9RS, UK. ^[2] Epsom & St Helier University Hospitals NHS Trust, Carshalton, SM5 1AA, UK. ^[3] Department of Immunological Medicine, King's College London, King's Health Partners, King's College Hospital NHS Foundation Trust, School of Immunology and Microbial Sciences, Denmark Hill, London, SE5 9RS, UK. m.ibrahim@kcl.ac.uk. ^[4]

关键词 Common Variable Immunodeficiency (CVID)NFKB2 autoimmunity hypogammaglobulinaemia lym1 mice novel pathogenic gene variants

主题词人类(Humans);自身免疫(Autoimmunity);普通可变性免疫缺陷(Common Variable Immunodeficiency);p52亚基NF-κB(NF-kappa B p52 Subunit)

DOI 10.1007/s10875-023-01491-x

PMID 37191755

发布时间 2023-07-24

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